Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome is not the name you expected.

Disorder Subdivisions

None

General Discussion

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare disorder that is inherited as an autosomal dominant trait. The main findings of this disorder are eyelids that are abnormally narrow horizontally (blepharophimosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus inversus), and drooping of the upper eyelids (ptosis). There are thought to be two types of the syndrome. Type I BPES may involve female infertility and is inherited as an autosomal dominant genetic trait. Both male and female children of a male with type I BPES have a 50% chance of being affected. If females with type I BPES are able to have children, the odds are 50% that each child (male or female) will have type I BPES. Type II BPES is also transmitted as an autosomal dominant genetic trait. Either parent may transmit the disorder and the children have a 50% chance of being affected. Type II is not associated with female infertility.

Supporting Organizations

AmeriFace

PO Box 751112

Las Vegas, NV 89136

USA

Tel: (702)769-9264

Fax: (702)341-5351

Tel: (888)486-1209

Email: info@ameriface.org

Website: http://www.ameriface.org

Blepharophimosis, Ptosis, Epicanthus Inversus Family Network

SE 820 Meadow Vale Dr.

Pullman, WA 99163

Tel: (509)332-6628

Email: Lschauble@gocougs.wsu.edu

Website: http://www.bpes.org.uk

Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240

USA

Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643

Email: contactCCA@ccakids.com

Website: http://www.ccakids.com

FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Website: http://www.faces-cranio.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

MyFace

333 East 30th Street, Lobby Unit

New York, NY 10016

Tel: (212)263-6656

Fax: (212)263-7534

Email: info@myface.org

Website: http://www.myface.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 7/23/2007Copyright 2007 National Organization for Rare Disorders, Inc.

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